Pathology · Endocrine Pathology (Thyroid, Adrenal, Pituitary)

Papillary thyroid carcinoma (PTC) arising in patients exposed to ionizing radiation in childhood (e.g., post-Chernobyl) predominantly carries which molecular alteration?

  • A BRAF V600E point mutation in >60% of cases
  • B NRAS codon 61 mutation with concurrent TERT promoter mutation
  • C RET/PTC rearrangements (chromosomal inversions/translocations creating RET fusion oncogenes)
  • D ALK gene rearrangement producing ALK fusion proteins
Correct answer: C. RET/PTC rearrangements (chromosomal inversions/translocations creating RET fusion oncogenes)

Explanation

Post-radiation PTC (especially childhood radiation exposure — Chernobyl, therapeutic neck irradiation) is characterized by a high prevalence of RET/PTC chromosomal rearrangements (RET gene on 10q11.2 fused to various partner genes — RET/PTC1 involving H4/CCDC6; RET/PTC3 involving NCOA4). These inversions are caused by double-strand DNA breaks induced by ionizing radiation, with rejoining of RET to partner genes on the same chromosome. The resulting fusion oncoproteins constitutively activate the MAPK and PI3K/AKT pathways. BRAF V600E is the most common alteration in sporadic adult PTC (~60%) but is less frequent in radiation-associated PTC; NRAS mutations with TERT promoter mutations suggest follicular-variant PTC or poor-prognosis PTC; ALK rearrangements are rare in thyroid carcinoma.

Reference: Robbins & Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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